Canonical Allele Identifier: CA10145294

Gene: CHCHD10

Linked Data

• ClinVar Variation Id: 473421
• ClinVar RCV Id: RCV000558937 ; RCV002530220
• dbSNP Id: rs542541060
• ExAC: 22:24109608 C / T
• gnomAD v2: 22-24109608-C-T
• gnomAD v3: 22-23767421-C-T
• gnomAD v4: 22-23767421-C-T
• MyVariant Identifiers: chr22:g.24109608C>T (hg19) ; chr22:g.23767421C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23767421C>T , CM000684.2:g.23767421C>T	GRCh38
NC_000022.10:g.24109608C>T , CM000684.1:g.24109608C>T	GRCh37
NC_000022.9:g.22439608C>T	NCBI36
NG_034223.1:g.5552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484558.3:c.214G>A MANE Select	ENSP00000418428.3:p.Ala72Thr
ENST00000401675.7:c.214G>A	ENSP00000384973.3:p.Ala72Thr
ENST00000484558.2:c.214G>A	ENSP00000418428.2:p.Ala72Thr
ENST00000517886.1:c.161G>A	ENSP00000429976.1:p.Ser54Asn
ENST00000520222.1:c.41+413G>A	ENSP00000430042.1:n.41+413G>A
NM_001301339.1:c.214G>A	NP_001288268.1:p.Ala72Thr
NM_213720.2:c.214G>A	NP_998885.1:p.Ala72Thr
NR_125755.1:n.259G>A
NR_125756.1:n.139+413G>A
NM_001301339.2:c.214G>A	NP_001288268.1:p.Ala72Thr
NM_213720.3:c.214G>A MANE Select	NP_998885.1:p.Ala72Thr
NR_125755.2:n.259G>A
NR_125756.2:n.139+413G>A